Clustering of cancer‐related mutations in a subset of BRCA1 alleles: A study in the Spanish population
Open Access
- 17 July 2002
- journal article
- research article
- Published by Wiley in International Journal of Cancer
- Vol. 100 (5) , 618-619
- https://doi.org/10.1002/ijc.10527
Abstract
We have observed that the frequency of D17S855 short alleles (139 bp and 141 bp) in individuals carrying BRCA1 germline mutations is higher than in controls (54% vs. 31%, p = 0.0004). By unambiguously establishing mutation/D17S855 phase in 18 BRCA1‐positive families, we find that most (11 of 15 different mutations) BRCA1 defects are linked to chromosomes with short alleles (OR = 8.21, 95% CI 1.97–39.32, p = 0.0007). We suggest that BRCA1 mutations are not randomly distributed but clustered in a subset of BRCA1 alleles that can be identified by D17S855 genotyping. Further analysis involving a larger set of mutations and different populations are needed to clarify the relevance of this unexpected finding.Keywords
Funding Information
- Aventis, Comunidad de Madrid (08.1/0018.1/2000)
- Fondo de Investigación Sanitaria (FIS) (01/0024-03, 99/0140)
This publication has 6 references indexed in Scilit:
- Association betweenBRCA1andBRCA2mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testingInternational Journal of Cancer, 2001
- Spanish family study on hereditary breast and/or ovarian cancer: Analysis of theBRCA1 geneInternational Journal of Cancer, 2000
- Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish familiesBritish Journal of Cancer, 2000
- BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer familiesInternational Journal of Cancer, 1999
- A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1Science, 1994
- High-Density Genetic Map of the BRCA1 Region of Chromosome 17q12-q21Genomics, 1993